G473S (p.Gly473Ser) variant of TGM1 (P22735)
G473S (p.Gly473Ser) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G473S (p.Gly473Ser) variant details
- p.Gly473Ser
- rs904122716
- ClinGen CA16042921
- ClinVar RCV000413793
- ClinVar RCV000762927
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.95
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.08
- CADD 27.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the Latino/Admixed American population (allele frequency 5.2e-05)
- Structural context available
- Cited in: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23… (PMID 19241467)
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)